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Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김송이 | - |
dc.contributor.author | 김수찬 | - |
dc.date.accessioned | 2014-12-18T08:27:46Z | - |
dc.date.available | 2014-12-18T08:27:46Z | - |
dc.date.issued | 2013 | - |
dc.identifier.issn | 0385-2407 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/86352 | - |
dc.description.statementOfResponsibility | open | - |
dc.relation.isPartOf | JOURNAL OF DERMATOLOGY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Collagen Type VII/genetics* | - |
dc.subject.MESH | Epidermolysis Bullosa Dystrophica/genetics* | - |
dc.subject.MESH | Epidermolysis Bullosa Dystrophica/pathology | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Infant, Newborn | - |
dc.subject.MESH | Polymerase Chain Reaction | - |
dc.subject.MESH | Sequence Deletion/genetics* | - |
dc.title | Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Dermatology (피부과학) | - |
dc.contributor.googleauthor | Sang Hee Lee | - |
dc.contributor.googleauthor | Song-Ee Kim | - |
dc.contributor.googleauthor | Eun Bee Noh | - |
dc.contributor.googleauthor | Se-Woong Oh | - |
dc.contributor.googleauthor | Soo-Chan Kim | - |
dc.identifier.doi | 10.1111/j.1346-8138.2012.01666.x | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00626 | - |
dc.contributor.localId | A00637 | - |
dc.relation.journalcode | J01372 | - |
dc.identifier.eissn | 1346-8138 | - |
dc.identifier.pmid | 22974128 | - |
dc.identifier.url | http://onlinelibrary.wiley.com/doi/10.1111/j.1346-8138.2012.01666.x/abstract | - |
dc.subject.keyword | Collagen Type VII/genetics* | - |
dc.subject.keyword | Epidermolysis Bullosa Dystrophica/genetics* | - |
dc.subject.keyword | Epidermolysis Bullosa Dystrophica/pathology | - |
dc.subject.keyword | Female | - |
dc.subject.keyword | Humans | - |
dc.subject.keyword | Infant, Newborn | - |
dc.subject.keyword | Polymerase Chain Reaction | - |
dc.subject.keyword | Sequence Deletion/genetics* | - |
dc.contributor.alternativeName | Kim, Song Yi | - |
dc.contributor.alternativeName | Kim, Soo Chan | - |
dc.contributor.affiliatedAuthor | Kim, Song Yi | - |
dc.contributor.affiliatedAuthor | Kim, Soo Chan | - |
dc.rights.accessRights | not free | - |
dc.citation.volume | 40 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 59 | - |
dc.citation.endPage | 61 | - |
dc.identifier.bibliographicCitation | JOURNAL OF DERMATOLOGY, Vol.40(1) : 59-61, 2013 | - |
dc.identifier.rimsid | 28929 | - |
dc.type.rims | ART | - |
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